title: Genetic characterization of the Drosophila birt-hogg-dubé syndrome gene.
abstract: Folliculin (FLCN) is a conserved tumor suppressor gene whose loss is associated with the human Birt-Hogg-Dubé (BHD) syndrome. However, its molecular functions remain largely unknown. In this work, we generated a Drosophila BHD model through genomic deletion of the FLCN gene (DBHD(-) ). The DBHD mutant larvae grew slowly and stopped development before pupation, displaying various characteristics of malnutrition. We found the growth delay was sensitive to the nutrient supplies. It became more severe upon restrictions of the dietary yeast; while high levels of yeast significantly restored the normal growth, but not viability. We further demonstrated that leucine was able to substitute for yeast to provide similar rescues. Moreover, the human FLCN could partially rescue the DBHD(-) phenotypes, indicating the two genes are involved in certain common mechanisms. Our work provides a new animal model of the BHD syndrome and suggests that modulation of the local nutrient condition might be a potential treatment of the BHD lesions.
authors.affiliation: Key Laboratory of Animal Biotechnology, the Ministry of Agriculture, College of Veterinary Medicine, Northwest A&F University, Yangling, Shaanxi, China.
authors.forename: Wei
authors.initials: W
authors.lastname: Liu
authors.forename: Zhi
authors.initials: Z
authors.lastname: Chen
authors.forename: Yansen
authors.initials: Y
authors.lastname: Ma
authors.forename: Xiaochun
authors.initials: X
authors.lastname: Wu
authors.forename: Yaping
authors.initials: Y
authors.lastname: Jin
authors.forename: Steven
authors.initials: S
authors.lastname: Hou
mesh_terms: D000818:Animals; D030801:Animals, Genetically Modified; D001483:Base Sequence; D058249:Birt-Hogg-Dube Syndrome / Q000235:genetics*; D003470:Culture Media; D017931:DNA Primers; D004330:Drosophila / Q000235:genetics* / Q000254:growth & development; D062951:Endoreduplication / Q000235:genetics; D018390:Gene Targeting; D006801:Humans; D007814:Larva / Q000254:growth & development; D008938:Mitosis; D016133:Polymerase Chain Reaction; D015003:Yeasts
chemical_list: D003470:Culture Media; D017931:DNA Primers